nf-cmgg / smallvariantsLinks
A nextflow pipeline for calling and annotating small germline variants from short DNA reads for WES and WGS data
☆13Updated last week
Alternatives and similar repositories for smallvariants
Users that are interested in smallvariants are comparing it to the libraries listed below
Sorting:
- A nextflow pipeline for calling exome CNVs☆13Updated 2 weeks ago
- Pipeline for structural variant image curation and analysis.☆49Updated 4 years ago
- Multi-sample genome coverage viewer to observe large, coverage-based anomalies alongside annotations and sample metadata☆58Updated 3 years ago
- Structural variant (SV) analysis tools☆40Updated last year
- Population-wide Deletion Calling☆35Updated 9 months ago
- heuristics to merge structural variant calls in VCF format.☆38Updated 9 years ago
- Suite of tools for analysing off-target reads to find CNVs, homozygous regions, and shared haplotypes☆31Updated 5 months ago
- CADD-SV – a framework to score the effect of structural variants☆18Updated last week
- ☆33Updated 3 years ago
- Computes various SV statistics☆14Updated 2 years ago
- What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.☆36Updated 2 years ago
- Structural variant benchmark☆21Updated 10 months ago
- Whole Genome Sequenceing Structural Variation Pipelines☆18Updated 6 years ago
- Efficient and accurate pathogenicity prediction for coding and regulatory structural variants in long-read genome sequencing☆39Updated 2 months ago
- Structural variant VCF annotation, duplicate removal and comparison☆35Updated 3 months ago
- Enabling differential allele-specific analysis☆11Updated last year
- Tandem repeat genotyping from long reads☆20Updated 3 weeks ago
- Plot CNV data with a genome viewer in R☆15Updated 8 years ago
- SV analysis of the long-read sequencing data of the 1019 samples of the 1KG-ONT panel☆38Updated 9 months ago
- ☆27Updated 9 months ago
- Copy Number Variation Detection In Next-generation sequencing Gene panels was designed for small (single-exon) copy number variation (CNV…☆21Updated 5 years ago
- Python package and routines for merging VCF files☆29Updated 4 years ago
- Immuological gene typing and annotation for genome assembly☆38Updated 10 months ago
- Tools for merging Tandem Repeat VCF files☆37Updated 9 months ago
- Functions to compare a SV call sets against a truth set.☆30Updated 7 months ago
- Easy genomic regions for short-read variant calling☆45Updated 4 months ago
- SAMStat displays various properties of next-generation sequencing reads stored in SAM/BAM format.☆24Updated 2 years ago
- Variant annotation and merging pipeline☆41Updated 6 months ago
- Pipeline for structural variation detection in cohorts☆52Updated 4 years ago
- ☆35Updated 4 years ago